Variant report

Variant	rs34423444
Chromosome Location	chr11:36203016-36203017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36202112..36204050-chr11:36205831..36207575,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10219274	1.00[AMR][1000 genomes]
rs12802388	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34581385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114300	1.00[AMR][1000 genomes]
rs71480101	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71480102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:36184800-36206200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:36185200-36203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:36185200-36207800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:36186400-36207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:36186600-36206000	Weak transcription	HSMM	muscle
7	chr11:36188000-36213600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:36192600-36203400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:36196800-36203400	Weak transcription	Fetal Lung	lung
10	chr11:36198000-36207000	Weak transcription	Fetal Stomach	stomach
11	chr11:36198000-36207200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:36198200-36207000	Weak transcription	NHEK	skin
13	chr11:36198400-36207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:36198400-36207000	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:36198600-36204200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:36199800-36207200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:36200400-36223800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:36201200-36207600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:36201400-36217400	Weak transcription	Ovary	ovary
20	chr11:36202000-36203600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:36202000-36204200	Weak transcription	HSMMtube	muscle
22	chr11:36202000-36204400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:36202200-36217200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:36202800-36204400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:36203000-36203400	Enhancers	Brain Germinal Matrix	brain
26	chr11:36203000-36204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:36203000-36204800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:36203000-36204800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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